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764456001: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3649620013 CA-VA (carbonic anhydrase VA) deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
3649916011 Carbonic anhydrase VA deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3649917019 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3649918012 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Due to Hyperammonemia true Inferred relationship Existential restriction modifier 2
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a Congenital disease true Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a Hyperammonemic encephalopathy true Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Finding site Brain tissue structure true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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